Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

3-phosphoglycerate-dehydrogenase (3-PGDH) deficiency is an L-serine biosynthesis disorder, characterised by congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report prenatal diagnosis of an affected fetus by DNA mutation analysis. Ultrasound assessment showed a re...

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Bibliographic Details
Published in:The Lancet (British edition) 2004-12, Vol.364 (9452), p.2221-2222
Main Authors: de Koning, TJ, Klomp, LWJ, van Oppen, ACC, Beemer, FA, Dorland, L, van den Berg, IET, Berger, R
Format: Article
Language:English
Subjects:
Amino Acid Metabolism, Inborn Errors - drug therapy
Biological and medical sciences
Biosynthesis
Birth defects
Brain - embryology
Carbohydrate Dehydrogenases - deficiency
Chorionic Villi Sampling
Circumferences
Congenital diseases
Dehydrogenase
Dehydrogenases
Deoxyribonucleic acid
DNA
Female
Fetal Therapies
Fetuses
General aspects
Genetic testing
Gestation
Humans
Infant, Newborn
Ingestion
Intellectual disabilities
Intellectual Disability - prevention & control
L-Serine
Medical sciences
Microcephaly
Microcephaly - prevention & control
Mutation
Phosphoglycerate Dehydrogenase
Plasma
Pregnancy
Prenatal development
Prenatal Diagnosis
Preventive medicine
Seizures
Serine - administration & dosage
Serine - blood
Serine - metabolism
Ultrasonic imaging
Ultrasonography, Prenatal
Ultrasound
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Description
Summary:3-phosphoglycerate-dehydrogenase (3-PGDH) deficiency is an L-serine biosynthesis disorder, characterised by congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report prenatal diagnosis of an affected fetus by DNA mutation analysis. Ultrasound assessment showed a reduction in fetal head circumference from the 75th percentile at 20 weeks' gestation to the 29th percentile at 26 weeks. L-serine was then given to the mother, which resulted in an enlarged fetal head circumference to the 76th percentile at 31 weeks. At birth, the girl's head circumference was normal, and at 48 months' follow-up, her psychomotor development has been unremarkable. 3-PGDH deficiency is an inborn metabolic error that can be successfully treated antenatally.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(04)17596-X